A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6441n152



Internal ID22822144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7650151..7655150hg38UCSC Ensembl
chr4:7651878..7656877hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3192281, nsv3207386
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSORCS2
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6441n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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